Sommayya E. Aftab

Lahore, PB, Pakistan

Last Updated: 09/26/2026

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Found 19 publications

Unmet Medical Needs in Pediatric Endocrinology: A Position Statement from the European Society for Paediatric Endocrinology Clinical Practice Committee and Council Joint Initiative.

Unmet Medical Needs in Pediatric Endocrinology: A Position Statement from the European Society for Paediatric Endocrinology Clinical Practice Committee and Council Joint Initiative.

Journal: Hormone research in paediatrics

Published: November 17, 2025

Clinical Spectrum of Primary Hypomagnesemia with Secondary Hypocalcemia due to TRPM6 Mutation.

Clinical Spectrum of Primary Hypomagnesemia with Secondary Hypocalcemia due to TRPM6 Mutation.

Journal: Hormone research in paediatrics

Published: January 26, 2025

An unusual case of remission of clinically overt autoimmune Addison's disease in a Pakistani girl.

An unusual case of remission of clinically overt autoimmune Addison's disease in a Pakistani girl.

Journal: Pakistan journal of medical sciences

Published: December 23, 2024

Vitamin D dependent rickets type 2A: a case series of two siblings with novel mutation in vitamin D receptor gene responded to high dose oral calcium and calcitriol.

Vitamin D dependent rickets type 2A: a case series of two siblings with novel mutation in vitamin D receptor gene responded to high dose oral calcium and calcitriol.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: December 17, 2024

A National Survey on Congenital Hypothyroidism Newborn Screening in Pakistan.

A National Survey on Congenital Hypothyroidism Newborn Screening in Pakistan.

Journal: Global pediatric health

Published: May 03, 2024

Managing Children and Adolescents with Type 1 Diabetes and Coexisting Celiac Disease: Real-World Data from a Global Survey.

Managing Children and Adolescents with Type 1 Diabetes and Coexisting Celiac Disease: Real-World Data from a Global Survey.

Journal: Hormone research in paediatrics

Published: March 22, 2024

Diabetes and CFAP126 gene mutation; are they really linked together?

Diabetes and CFAP126 gene mutation; are they really linked together?

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: January 18, 2024

Aromatase deficiency due to novel CYP19A1 mutation: a rare cause of maternal and fetal virilization.

Aromatase deficiency due to novel CYP19A1 mutation: a rare cause of maternal and fetal virilization.

Journal: Case reports in perinatal medicine

Published: December 08, 2023

Corticosterone Methyl Oxidase Type 1 (CMO1) Deficiency Due to CYP11B2 Mutation: Two Case Reports.

Corticosterone Methyl Oxidase Type 1 (CMO1) Deficiency Due to CYP11B2 Mutation: Two Case Reports.

Journal: Cureus

Published: May 17, 2023

Clinical spectrum and diagnostic challenges of vitamin D dependent rickets type 1A (VDDR1A) caused by CYP27B1 mutation in resource limited countries.

Clinical spectrum and diagnostic challenges of vitamin D dependent rickets type 1A (VDDR1A) caused by CYP27B1 mutation in resource limited countries.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: October 27, 2022

Spectrum of neuro-developmental disorders in children with congenital hyperinsulinism due to activating mutations in GLUD1.

Spectrum of neuro-developmental disorders in children with congenital hyperinsulinism due to activating mutations in GLUD1.

Journal: Endocrine connections

Published: June 25, 2022

Management challenges of Rabson Mendenhall syndrome in a resource limited country: a case report.

Management challenges of Rabson Mendenhall syndrome in a resource limited country: a case report.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: April 20, 2022

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Last Updated: 09/26/2026